[HTML][HTML] Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA …
MD Brown, IA Trounce, AS Jun, JC Allen… - Journal of Biological …, 2000 - ASBMB
Leber's hereditary optic neuropathy (LHON) is a form of blindness caused by mitochondrial
DNA (mtDNA) mutations in complex I genes. We report an extensive biochemical analysis of
the mitochondrial defects in lymphoblasts and transmitochondrial cybrids harboring the
three most common LHON mutations: 3460A, 11778A, and 14484C. Respiration studies
revealed that the 3460A mutation reduced the maximal respiration rate 20–28%, the 11778A
mutation 30–36%, and the 14484C mutation 10–15%. The respiration defects of the 3460A …
DNA (mtDNA) mutations in complex I genes. We report an extensive biochemical analysis of
the mitochondrial defects in lymphoblasts and transmitochondrial cybrids harboring the
three most common LHON mutations: 3460A, 11778A, and 14484C. Respiration studies
revealed that the 3460A mutation reduced the maximal respiration rate 20–28%, the 11778A
mutation 30–36%, and the 14484C mutation 10–15%. The respiration defects of the 3460A …